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Engineering a human-based translational activator for targeted protein expression restoration - PubMed

5 days ago
  • #translational activation
  • #Dravet syndrome
  • #haploinsufficiency
  • Therapeutic modalities to increase protein production are needed for diseases caused by haploinsufficiency.
  • A translational activator was engineered using the CRISPR-Cas-inspired RNA-targeting system (CIRTS) platform.
  • The engineered human protein, CIRTS-4GT3, can increase mRNA translation by up to 100% for specific transcripts.
  • AAV-delivery of CIRTS-4GT3 targeting SCN1a mRNA improved survivability and seizure threshold in a Dravet syndrome mouse model.
  • This approach validates a strategy to address SCN1a haploinsufficiency and highlights the potential of translational activation for neurological disorders.